T34M (p.Thr34Met) variant of SOST (Sclerostin)
T34M (p.Thr34Met) in SOST (Sclerostin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
T34M (p.Thr34Met) variant details
- p.Thr34Met
- rs200581535
- 1000Genomes rs200581535
- ESP rs200581535
- ExAC rs200581535
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.80
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available